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Table 2 Summary of pathogenic mutations caused CORD reported thus far

From: Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family

Nucleotide and amino acid changes Patient age Patient population Literature PMID
NM_001034853.1(RPGR): c.2447_2461delCTCCCCTTCATCTCC(p.Gly816Glufs) 40/not provided 2 11,875,055
NM_001034853.1(RPGR):c.2847_2848delAGinsCT (p.Glu949_Glu950delinsAspTer) 37,40,48,51,74 5 15,914,600
NM_001034853.1(RPGR):c.2929G > T(p.Gly977Ter) 22,44,50,70,73 8 15,914,600
NM_001034853.1(RPGR):c.3092_3093delAG (p.Glu1031Glyfs) not provided not provided 11,857,109
NM_001034853.1(RPGR):c.3096_3097delGG (p.Glu1033Argfs) 47/not provided 2 32,047,640
47 not provided 11,857,109
50,74 2 11,875,055
NM_001034853.1(RPGR):c.3104_3105delAG (p.Glu1035Glyfs) 11 2 32,047,640
NM_001034853.1(RPGR):c.3178_3179delGA (p.Glu1060Argfs) 50 1 32,047,640
NM_001034853.1(RPGR):c.3308_3309delAT (p.Tyr1103Serfs) 74 1 32,047,640
NM_001034853.1(RPGR):c.3399delG(p.Pro1134Hisfs) 57 2 32,047,640